Mohr–Tranebjærg syndrome

Updated on Dec 03, 2023

Edit

Comment

OMIM 304700

Mohr–Tranebjærg syndrome (MTS) is a rare X-liked recessive syndrome also known as deafness–dystonia syndrome and caused by mutation in the TIMM8A gene. It was first described in 1960. The severity of the symptoms may vary, but they progress usually to severe deafness and dystonia and sometimes are accompanied by cortical deterioration of vision and mental deterioration.

Alternative names

Deafness–dystonia–optic neuronopathy syndrome, DDS

Deafness–dystonia–optic atrophy syndrome, DDP

Deafness syndrome, progressive, with blindness, dystonia, fractures, and mental deficiency

References

Mohr–Tranebjærg syndrome Wikipedia

(Text) CC BY-SA